FIGURE 16-3 Two examples show the consequences of point mutations at splice sites. (a) A C to T transition mutation leads to a GT dinucleotide in Point mutations can alter MRNA splicing (a) the exon, forming a new 5' splice site. As a result, 64 nucleotides at the end of an exon are spliced out. (b) A G to T transversion mutation would eliminate the GT GC AG AG Intron GT / *64 nt New 5' splice site formed Exon 5' splice site so the intron would be retained in the MRNA. (b) GT AG GT AG 5' splice site eliminated, intron retained

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Question

In Figure 16-3a, what is the consequence of the new 5′
splice site on the open reading frame? In 16-3b, how big
could the intron be to maintain the reading frame (let’s
say between 75 and 100 bp)?

FIGURE 16-3 Two examples show the
consequences of point mutations at
splice sites. (a) A C to T transition
mutation leads to a GT dinucleotide in
Point mutations can alter MRNA splicing
(a)
the exon, forming a new 5' splice site. As
a result, 64 nucleotides at the end of an
exon are spliced out. (b) A G to T
transversion mutation would eliminate the
GT
GC
AG
AG
Intron
GT
/ *64 nt
New 5' splice
site formed
Exon
5' splice site so the intron would be
retained in the MRNA.
(b)
GT
AG
GT
AG
5' splice site eliminated,
intron retained
Transcribed Image Text:FIGURE 16-3 Two examples show the consequences of point mutations at splice sites. (a) A C to T transition mutation leads to a GT dinucleotide in Point mutations can alter MRNA splicing (a) the exon, forming a new 5' splice site. As a result, 64 nucleotides at the end of an exon are spliced out. (b) A G to T transversion mutation would eliminate the GT GC AG AG Intron GT / *64 nt New 5' splice site formed Exon 5' splice site so the intron would be retained in the MRNA. (b) GT AG GT AG 5' splice site eliminated, intron retained
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